Alport-leiomyomatosis syndrome: an update.

Abstract

Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the 5' end of the COL4A5 gene coding for the type IV collagen alpha 5 chains. Hypothetically, the deletion extends beyond the 5' end and probably includes a second contiguous gene responsible for leiomyomatosis (the DL gene) and even a third one coding for congenital cataract (the CCT gene).

• Authors: R García-Torres, L Orozco
• Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 22 Issue 5 Pg. 641-8 (Nov 1993) ISSN: 0272-6386 [Print] United States
• PMID: 8238008 (Publication Type: Journal Article, Review)

Topics

• Adolescent
• Adult
• Cataract
• Child
• Child, Preschool
• Esophageal Neoplasms
• Female
• Genital Neoplasms, Female
• Humans
• Infant
• Leiomyomatosis (genetics)
• Male
• Nephritis, Hereditary (genetics)
• Respiratory Tract Neoplasms
• Syndrome